Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.,Journal of Molecular Neuroscience

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Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
Journal of Molecular Neuroscience ( IF 2.8 ) Pub Date : 2020-07-02 , DOI: 10.1007/s12031-020-01643-3
Sifei Wu ₁ , Mei Hou ₂ , Yu Zhang ₃ , Jie Song ₁ , Ya Guo ₁ , Peipei Liu ₁ , Yedan Liu ₁ , Liping Yi ₁ , Xiaoyu Pan ₁ , Wei We ₄ , Zongbo Chen ₁

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Metachromatic leukodystrophy(MLD) is an autosomal recessive hereditary neurodegenerative lysosomal storage disorder caused by the mutations in arylsulfatase A gene (ARSA), which results in the deficiency of ARSA enzyme. The common clinical characteristics of MLD are abnormal gait, and then gradually appears ataxia, spastic quadriplegia, optic atrophy, cortical blindness, and dementia. We describe two patients in China who were diagnosed with MLD and find that the four ARSA gene mutations (c.1115G>A, c.302G>T, c.893 G> T, and c.302G>T) are associated with MLD, in which c.893 G>T and c.302G>T are novel mutations by gene sequence and clinical manifestations, to further understand the relationship between MLD and ARSA gene.

更新日期：2020-07-03

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